List of works - Mustafa A. Salih

A Novel Form of Familial Congenital Muscular Dystrophy in Two Adolescents

scientific article published on 01 December 1998

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease

scientific article

A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.

scientific article

A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23.

scientific article

A newly recognized autosomal recessive syndrome affecting neurologic function and vision

scientific article published on 30 April 2013

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

scientific article

A substance in broad beans (Vicia faba) is protective against experimentally induced convulsions in mice.

scientific article

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

scientific article

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

scientific article

Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity

scientific article published on 01 January 2000

Bilateral congenital entropion with cutis laxa

scientific article published on 11 February 2014

Brain stem and cerebellar findings in Joubert syndrome

scientific article published in January 2006

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

scientific article published in April 2007

C19orf12 mutation leads to a pallido-pyramidal syndrome.

scientific article published on 17 December 2013

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

scientific article

Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome.

scientific article

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.

scientific article

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

scientific article

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

scientific article published on 7 January 2008

Clinical characterization of the HOXA1 syndrome BSAS variant

scientific article

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

scientific article published on 01 January 2011

Congenital Myasthenic Syndrome Due to Homozygous CHRNE Mutations: Report of Patients in Arabia

scientific article published on 01 March 2011

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

scientific article published on 21 November 2011

Congenital microcephaly with a simplified gyral pattern: associated findings and their significance.

scientific article published on 31 March 2011

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

scientific article

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

scientific article

Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.

scientific article

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

scientific article

Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome.

scientific article

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

scientific article

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

scientific article

Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome

scientific article published on 27 June 2013

Features of a large epidemic of group A meningococcal meningitis in Khartoum, Sudan in 1988.

scientific article published in January 1990

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

scientific article

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

scientific article

Hemiconvulsion-hemiplegia-epilepsy syndrome. A clinical, electroencephalographic and neuroradiological study

scientific article published in May 1997

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene

scientific journal article

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

scientific article published on 7 September 2016

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

scientific article

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.

scientific article published on December 2004

Interleukin 10 gene polymorphisms and development of post kala-azar dermal leishmaniasis in a selected sudanese population

scientific article published on 29 December 2009

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

scientific article published on 14 April 2007

Juvenile-Onset Parkinsonism as a Result of the First Mutation in the Adenosine Triphosphate Orientation Domain of PINK1

scientific article published on 01 September 2006

Long term sequelae of childhood acute bacterial meningitis in a developing country. A study from the Sudan

scientific article published in January 1991

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

scientific article

Maximal thymectomy in children with myasthenia gravis

scientific article

Megalencephalic leukoencephalopathy with cysts without MLC1 defect

scientific article

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.

scientific article

Molecular characterization of Joubert syndrome in Saudi Arabia

scientific article published on 11 July 2012

Moyamoya syndrome with unusual angiographic findings and protein C deficiency: review of the literature.

scientific article

Muscular dystrophy associated with ?-dystroglycan deficiency

scientific article published on 01 December 1996

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

scientific article

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

scientific article

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

scientific article (publication date: October 2002)

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

scientific article published on February 2010

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

scientific article

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

scientific article

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

scientific article

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

scientific article published on 27 August 2009

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve

scientific article

NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.

scientific article published on 26 April 2013

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

scientific article

Ophthalmic features of Joubert syndrome.

scientific article published in December 2008

Ophthalmic features ofPLA2G6-related paediatric neurodegeneration with brain iron accumulation

Optic disk and white matter abnormalities in a patient with a de novo 18p partial monosomy.

scientific article published in September 2010

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

scientific article

Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder

scientific article published on 6 September 2012

Prevalence of epilepsy in 74,949 school children in Khartoum State, Sudan.

scientific article published on 6 February 2017

Prominent corneal nerves: a novel sign of lipoid proteinosis.

scientific article published on 12 May 2012

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

scientific article published in December 2009

Reply

scientific article published on 02 January 2014

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvement

scientific article published on 12 May 2011

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia

scientific article published in August 2010

SLC25A22 is a novel gene for migrating partial seizures in infancy.

scientific article

Sleep-disordered breathing in children with craniosynostosis

scientific article published on 26 April 2012

Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia

scientific article published on 01 June 1999

Spinocerebellar Ataxia with Axonal Neuropathy ⬇️

scientific article published on January 1, 2010

The Salih ataxia mutation impairs Rubicon endosomal localization.

scientific article published in December 2013

The clinical spectrum of homozygous HOXA1 mutations

scientific article

The neurology of carbonic anhydrase type II deficiency syndrome

scientific article published on 26 November 2011

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

scientific article

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.

scientific article

When straight eyes won't move: phenotypic overlap of genetically distinct ocular motility disturbances

scientific article published on 01 December 2011

List of works by Mustafa A. Salih

A Novel Form of Familial Congenital Muscular Dystrophy in Two Adolescents

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease

A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation.

A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23.

A newly recognized autosomal recessive syndrome affecting neurologic function and vision

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

A substance in broad beans (Vicia faba) is protective against experimentally induced convulsions in mice.

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity

Bilateral congenital entropion with cutis laxa

Brain stem and cerebellar findings in Joubert syndrome

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

C19orf12 mutation leads to a pallido-pyramidal syndrome.

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Case of partial trisomy 2q3 with clinical manifestations of Marshall-Smith syndrome.

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

Clinical characterization of the HOXA1 syndrome BSAS variant

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

Congenital Myasthenic Syndrome Due to Homozygous CHRNE Mutations: Report of Patients in Arabia

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism

Congenital microcephaly with a simplified gyral pattern: associated findings and their significance.

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome.

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome

Features of a large epidemic of group A meningococcal meningitis in Khartoum, Sudan in 1988.

Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Hemiconvulsion-hemiplegia-epilepsy syndrome. A clinical, electroencephalographic and neuroradiological study

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.

Interleukin 10 gene polymorphisms and development of post kala-azar dermal leishmaniasis in a selected sudanese population

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

Juvenile-Onset Parkinsonism as a Result of the First Mutation in the Adenosine Triphosphate Orientation Domain of PINK1

Long term sequelae of childhood acute bacterial meningitis in a developing country. A study from the Sudan

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Maximal thymectomy in children with myasthenia gravis

Megalencephalic leukoencephalopathy with cysts without MLC1 defect

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.

Molecular characterization of Joubert syndrome in Saudi Arabia

Moyamoya syndrome with unusual angiographic findings and protein C deficiency: review of the literature.

Muscular dystrophy associated with ?-dystroglycan deficiency

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve

NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

Ophthalmic features of Joubert syndrome.

Ophthalmic features ofPLA2G6-related paediatric neurodegeneration with brain iron accumulation

Optic disk and white matter abnormalities in a patient with a de novo 18p partial monosomy.

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder

Prevalence of epilepsy in 74,949 school children in Khartoum State, Sudan.

Prominent corneal nerves: a novel sign of lipoid proteinosis.

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

Reply

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvement

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia

SLC25A22 is a novel gene for migrating partial seizures in infancy.

Sleep-disordered breathing in children with craniosynostosis

Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia

Spinocerebellar Ataxia with Axonal Neuropathy ⬇️

The Salih ataxia mutation impairs Rubicon endosomal localization.

The clinical spectrum of homozygous HOXA1 mutations